About Bone Marrow Failure

Bone marrow failure syndromes are disorders marked by the reduced ability of the bone marrow (the red, spongy material inside the bones) to make blood. Blood has three main cell types: red blood cells (carry oxygen), white blood cells (fight infection) and platelets (clot the blood). New blood cells (called “stem cells”) begin in the bone marrow and are released to the bloodstream when mature.

Bone marrow failure results when one of these cell types is decreased (called “isolated cytopenia”) or all three cell types are decreased (called “pancytopenia”), which affects the body’s ability to function. Reduction in cell production can be caused by cell damage (aplastic anemia), defects that occur when a generic cell differentiates (or changes into) a specific type of cell (like pediatric myelodysplastic syndrome) and bone marrow infiltration (from blood cancer such as leukemia and multiple myeloma).

Our renowned hematologists, oncologists and researchers at the Nemours Center for Cancer and Blood Disorders (NCCBD) work together with other top specialists to care for children with all kinds of bone marrow failure syndromes.

Types of Childhood Bone Marrow Failure Syndromes We Treat

Bone marrow failure syndromes are complex and can affect the body in many different ways. Bone marrow failure can be inherited and present at birth (called “congenital”) or can develop later in life due to certain exposures (called “acquired”). In some cases, there is no known cause (referred to as “idiopathic”) for bone marrow failure.

Acquired Bone Marrow Failure Syndromes

Aplastic Anemia

Aplastic anemia in children occurs when the bone marrow fails to produce enough of all three blood cell types: red, white and platelets. Aplastic anemia commonly arises when the immune system suppresses stem cells. Although most of the time (in 50–75 percent of cases) aplastic anemia has no known cause (this is called “idiopathic aplastic anemia”), some are the result of infections (post-infectious aplastic anemia), medications (including chemotherapy), or environmental toxins, and exposure to radiation and autoimmune diseases (which cause the body’s immune system to attack healthy cells) can contribute.

Aplastic anemia in children is classified as “moderate,” “severe” or “very severe.”

Pediatric Myelodysplastic Syndrome (MDS)

Myelodysplastic syndrome (MDS) is rare blood disease that occurs when the bone marrow fails to develop all three blood cell types: red, white and platelets. In myelodysplastic syndrome, the blood cell maturation process is disturbed. Whether it’s due to too few mature blood cells being produced, or too many immature blood cells (called “blasts”) crowding out the mature ones, pediatric myelodysplastic disease can sometimes turn into leukemia (in 30 percent of the cases).

In primary myelodysplastic disease, there is no known cause. Secondary myelodysplastic disease can result from inherited bone marrow failure syndromes, cancer treatments (radiation therapy and chemotherapy) and genetic causes (called “familial MDS”).

There are different types of myelodysplastic syndrome based on how the cells look under the microscope, and by the amount of blasts present.

Diagnosing Bone Marrow Failure in Children

Most often, bone marrow failure syndromes that are inherited and only affect one blood cell type (including Diamond Blackfan anemia, severe congenital neutropenia and congenital amegakaryocytic thrombocytopenia) are diagnosed in infancy. Bone marrow syndromes that affect more than one blood cell type (aplastic anemia, Fanconi anemia and dyskeratosis congenital) are diagnosed in later childhood and adolescence.

Signs & Symptoms of Bone Marrow Failure

Symptoms of bone marrow failure in children vary widely depending on the disorder, but can include:

pale skin (pallor)

energy loss

shortness of breath

small red dots under the skin (petechiae)

unexplained and/or recurring infections

easy bruising

fatigue

difficulty stopping bleeding (with minor wounds, nosebleeds)

Physical defects such as skin pigmentation, short stature and abnormalities in the thumbs may also be present.

Testing & Evaluations

If your child has a possible bone failure syndrome such as aplastic anemia or myelodysplastic syndrome, Nemours’ experienced cancer and blood disorder care team works together to quickly and appropriately diagnose the disease through a variety of tests and procedures, including:

Your care team is here to provide your family with ongoing support and follow-up. We always include you in the entire process, because we truly believe in the healing power of families, and that you know your child best.

Innovative Childhood Bone Marrow Failure Treatment at Nemours

Bone marrow failure syndromes in children are complex and require expert, efficient treatment, close monitoring and follow-up care. Treatments depend on the symptoms and resulting medical problems caused by or related to the disease. Treatment might include:

Additional Resources & Support for Families

Nemours Support Services

Dealing with a complex medical condition is difficult for your child and family. But you don’t have to go through it alone. Nemours provides an array of support services that begin on the very first day we meet, and continues throughout your journey because at Nemours, your child and family become part of our own.

Platelet Disorder Support Association: This organization is dedicated to enhancing the lives of people with immune thrombocytopenia (ITP) and other platelet disorders through education, advocacy, research and support.

National Bone Marrow Transplant Link: The organization helps patients, caregivers and families cope with the social and emotional challenges of bone marrow/stem cell transplantation, from diagnosis through survivorship. They provide information and personalized support services.